All individuals with variants in gene SPEG

4 entries on 1 page. Showing entries 1 - 4.
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00027184 - PubMed: Agrawal 2014 2-generation family, 3 affecteds (F), unaffected heterozygous carrier parents and sib F yes - - - 0 - - CNM see paper; early death (2d, 2d, 3w) 1 3 Johan den Dunnen
00027185 - PubMed: Agrawal 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CNM severe hypotonia since birth; needed tracheostomy; 24 hr mechanical ventilation; gastrostomy; dilated cardiomyopathy; congestive cardiac failure in neonatal age was treated with digoxin and captopril; hypotrophic myofibers, marked increase in central nuclei 2 1 Johan den Dunnen
00027186 - PubMed: Agrawal 2014 2-generation family, 3 affecteds (F fetus, 2M), unaffected heterozygous carrier parents - no Turkey - - 0 - - CNM hypotonia since birth, dilated cardiomyopathy and nephrolithiasis, orogastric feeds, no assisted ventilation; myopathic changes; variation in fiber size, more prominent in some fascicles, increased central nuclei in hypotrophic fibers, predominant type 1 fibers 2 1 Johan den Dunnen
00208847 - - - ? - Germany - - 0 - - - - 1 1 Andreas Laner
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